Burden Analysis of Rare Microdeletions Suggests a Strong Impact of Neurodevelopmental Genes in Genetic Generalised Epilepsies

  title={Burden Analysis of Rare Microdeletions Suggests a Strong Impact of Neurodevelopmental Genes in Genetic Generalised Epilepsies},
  author={Dennis Lal and Ann-Kathrin Ruppert and Holger Trucks and Herbert Schulz and Carolien G F de Kovel and Dorothee Kasteleijn-Nolst Trenit{\'e} and Anja C. M. Sonsma and Bobby P. C. Koeleman and Dick Lindhout and Yvonne G. Weber and Holger Lerche and Claudia Kapser and Christoph Josef Schankin and Wolfram S Kunz and Rainer Surges and Christian Erich Elger and Verena Gaus and B. Schmitz and Ingo Helbig and Hiltrud Muhle and Ulrich Stephani and Karl Martin Klein and F. Rosenow and Bernd Axel Neubauer and Eva Maria Reinthaler and Fritz Zimprich and Martha Feucht and Rikke Steensbjerre M\oller and Helle Hjalgrim and Peter de Jonghe and Arvid Suls and Wolfgang Lieb and Andre Franke and Konstantin Strauch and Christian Gieger and Claudia Schurmann and Ulf Schminke and Peter N{\"u}rnberg and Thomas K. Sander},
  booktitle={PLoS genetics},
Genetic generalised epilepsy (GGE) is the most common form of genetic epilepsy, accounting for 20% of all epilepsies. Genomic copy number variations (CNVs) constitute important genetic risk factors of common GGE syndromes. In our present genome-wide burden analysis, large (≥ 400 kb) and rare (< 1%) autosomal microdeletions with high calling confidence (≥ 200 markers) were assessed by the Affymetrix SNP 6.0 array in European case-control cohorts of 1,366 GGE patients and 5,234 ancestry-matched… CONTINUE READING
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